Browse variants
| id | CHR | POS | REF | ALT | HGVS c. | HGVS p. | GENE | RSID | Mean user class | Consensus classification | Review state |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 33188 | chrX | 11139474 | A | G |
c.2314T>C
|
p.Ser772Pro
|
- | 3.0 |
|
B | |
| 26474 | chrX | 11143922 | T | G |
c.2176+58A>C
|
-
|
- | 3.0 |
|
B | |
| 29577 | chrX | 11144013 | T | C |
c.2143A>G
|
p.Arg715Gly
|
- | 3.0 |
|
B | |
| 11401 | chrX | 11156510 | G | A |
c.1907+19C>T
|
-
|
- | 3.0 |
|
B | |
| 29578 | chrX | 11156528 | C | T |
c.1907+1G>A
|
p.?
|
3.0 |
|
B | ||
| 12780 | chrX | 11156592 | C | T |
c.1844G>A
|
p.Ser615Asn
|
- | 3.0 |
|
B | |
| 9574 | chrX | 11156594 | G | C |
c.1842C>G
|
p.Ile614Met
|
- | 3.0 |
|
B | |
| 17147 | chrX | 11156622 | G | A |
c.1814C>T
|
p.Pro605Leu
|
- | 3.0 |
|
B | |
| 22420 | chrX | 11179359 | C | T |
c.1423G>A
|
p.Asp475Asn
|
- | 3.0 |
|
B | |
| 28203 | chrX | 11182051 | C | G |
c.1329+12G>C
|
-
|
- | 3.0 |
|
B | |
| 26588 | chrX | 11186382 | C | T |
c.1127G>A
|
p.Arg376Gln
|
3.0 |
|
B | ||
| 31329 | chrX | 11188980 | G | T |
c.825C>A
|
p.Phe275Leu
|
- | 3.0 |
|
B | |
| 13754 | chrX | 11254614 | G | A |
c.682C>T
|
p.Gln228Ter
|
- | 3.0 |
|
B | |
| 8302 | chrX | 11265856 | G | A |
c.589-11149C>T
|
-
|
- | 3.0 |
|
B | |
| 28424 | chrX | 11664296 | T | G |
c.533A>C
|
p.Lys178Thr
|
- | 3.0 |
|
B | |
| 18484 | chrX | 11664414 | G | A |
c.415C>T
|
p.Leu139=
|
3.0 |
|
B | ||
| 24593 | chrX | 11664623 | G | A |
c.206C>T
|
p.Ser69Leu
|
- | 3.0 |
|
B | |
| 22215 | chrX | 11664641 | C | T |
c.188G>A
|
p.Gly63Asp
|
3.0 |
|
B | ||
| 15023 | chrX | 11664691 | G | A |
c.138C>T
|
p.Cys46=
|
- | 3.0 |
|
B | |
| 26529 | chrX | 11664782 | G | T |
c.47C>A
|
p.Pro16His
|
- | 3.0 |
|
B |